Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.

ABSTRACT:

Objective

We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well-phenotyped pediatric patients with epilepsy and suspected but previously undetermined genetic etiology.

Methods

We identified and phenotyped 125 participants with pediatric epilepsy. Etiology was unexplained at the time of enrollment despite clinical testing, which included chromosomal microarray (57 patients), epilepsy gene panel (n = 48), both (n = 28), or WES (n = 8). Clinical epilepsy diagnoses included developmental and epileptic encephalopathy (DEE), febrile infection-related epilepsy syndrome, Rasmussen encephalitis, and other focal and generalized epilepsies. We analyzed WES data and compared the yield in participants with and without p

SUBMITTER: Rochtus A 

PROVIDER: S-EPMC7404709 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature